Combined oxidative phosphorylation defect type 30

disorder

SNOMED 1172841001CUI C5567605

Overview

Combined oxidative phosphorylation defect type 30 is a disorder.

Auto-generated from clinical reference data. Not a substitute for medical advice.

Signs & Symptoms

Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.

Absent otoacoustic emissions

Always present (100%)HP:6000182

Alanine aminotransferase increased

Always present (100%)HP:0031964

Decreased activity of cytochrome C oxidase in muscle tissue

Always present (100%)HP:0003688

Decreased activity of mitochondrial complex IV

Always present (100%)HP:0008347

Feeding difficulties

Always present (100%)HP:0011968

Increased blood lactate

Always present (100%)HP:0002151

Increased CSF lactic acid

Always present (100%)HP:0002490

Lacticacidemia

Always present (100%)HP:0003128

Peripheral hypotonia

Always present (100%)HP:0001252

Ragged-red muscle fibers

Always present (100%)HP:0003200

Respiratory complex I deficiency

Always present (100%)HP:0011923

Respiratory failure

Always present (100%)HP:0002878

Undergrowth

Always present (100%)HP:0001508

Elevated gamma-glutamyltransferase level

Frequent (30-79%)HP:0030948

Elevated lactate:pyruvate ratio

Frequent (30-79%)HP:0032653

Elevated serum aspartate aminotransferase

Frequent (30-79%)HP:0031956

Gastroesophageal reflux disease

Frequent (30-79%)HP:0002020

Increased blood alanine

Frequent (30-79%)HP:0003348

Left ventricular wall hypertrophy

Frequent (30-79%)HP:0001712

More grooves in brain

Frequent (30-79%)HP:0002126

Polymicrogyria, anterior to posterior gradient

Frequent (30-79%)HP:0006821

Poor sucking

Frequent (30-79%)HP:0002033

Respiratory complex III deficiency

Frequent (30-79%)HP:0011924

Sensorineural deafness

Frequent (30-79%)HP:0000407

Decreased liver function

HP:0001410

Respiratory complex II deficiency

Excluded (<1%)HP:0008314

Related Conditions

Inherited metabolic disorder of nervous system(parent)

Disorder of mitochondrial respiratory chain complexes(parent)

Mitochondrial cytopathy(parent)

Recessive hereditary disorder (autosomal)(parent)

Hereditary disorder of musculoskeletal system(parent)

Disease of skeletal muscle(parent)

Quick Facts

SNOMED CT: 1172841001
UMLS CUI: C5567605
Fully Specified Name: Combined oxidative phosphorylation defect type 30 (disorder)
Specialists: 0
Diagnostic Biomarkers: 0
HPO Phenotypes: 26

Medical Disclaimer

This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.

Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.